HGVS | Genome Assembly |
---|---|
NC_000002.12:g.44253811G>T , CM000664.2:g.44253811G>T | GRCh38 |
NC_000002.11:g.44480950G>T , CM000664.1:g.44480950G>T | GRCh37 |
NC_000002.10:g.44334454G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649044.1:c.1135-21693G>T | ENSP00000497083.1:n.1135-21693G>T |